CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Cyclin-dependent kinase-like 5 deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 17993579 2008
dbSNP: rs267608511
rs267608511
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		C 0.700 CausalMutation CLINVAR Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 17993579 2008
dbSNP: rs863225289
rs863225289
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. 16611748 2006
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. 16330482 2005
dbSNP: rs62643614
rs62643614
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. 15917271 2005
dbSNP: rs1057518203
rs1057518203
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060501859
rs1060501859
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1060501860
rs1060501860
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs122460157
rs122460157
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs122460157
rs122460157
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs122460158
rs122460158
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555940536
rs1555940536
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555949009
rs1555949009
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555949009
rs1555949009
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555949041
rs1555949041
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555949763
rs1555949763
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555950066
rs1555950066
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555950083
rs1555950083
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555950465
rs1555950465
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		TAGCG 0.700 CausalMutation CLINVAR
dbSNP: rs1555950468
rs1555950468
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555950494
rs1555950494
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555951991
rs1555951991
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555952015
rs1555952015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555952052
rs1555952052
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555952101
rs1555952101
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR